An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes | Zendy

Alessia David | Zendy; Cecilia CamachoHübner | Zendy; Amrit Bhangoo | Zendy; Stephen Rose | Zendy; Farideh MirakiMoud | Zendy; Scott Akker | Zendy; Gary Butler | Zendy; Svetlana Ten | Zendy; Peter Clayton | Zendy; Adrian Clark | Zendy; Martin O. Savage | Zendy; Lou Metherell | Zendy

Open Access

An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

Author(s) -

Alessia David,

Cecilia CamachoHübner,

Amrit Bhangoo,

Stephen Rose,

Farideh MirakiMoud,

Scott Akker,

Gary Butler,

Svetlana Ten,

Peter Clayton,

Adrian Clark,

Martin O. Savage,

Lou Metherell

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-1527

Subject(s) - growth hormone receptor , short stature , exon , phenotype , genetics , mutation , biology , hypoplasia , intron , gene , endocrinology , medicine , growth hormone , hormone

Inherited GH insensitivity (GHI) is usually caused by mutations in the GH receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and may have midfacial hypoplasia (typical Laron syndrome facial features). We previously described four mildly affected GHI patients with an intronic mutation in the GHR gene (A(-1)-->G(-1) substitution in intron 6), resulting in the activation of a pseudoexon (6Psi) and inclusion of 36 amino acids.

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